Variant report

Variant	rs9948382
Chromosome Location	chr18:45509964-45509965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45504611..45507573-chr18:45509284..45511408,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11660291	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11660888	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11661805	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12454831	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12456505	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12458978	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12959163	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12971176	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13381433	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17885999	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1942159	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28461482	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28679354	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34380210	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36033209	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55670531	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61022371	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61474022	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62087556	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62087557	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7236676	0.85[ASN][1000 genomes]
rs7504201	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7504245	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8087158	0.83[TSI][hapmap]
rs9950547	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9967472	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv978736	chr18:45504781-45511894	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3424747	chr18:45507779-45510327	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9948382	MYO5B	cis	parietal	SCAN
rs9948382	C18orf32	cis	parietal	SCAN
rs9948382	ZBTB7C	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45501800-45510200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:45502200-45510000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:45506200-45510200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:45508200-45510000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr18:45508200-45510400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr18:45508400-45510000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:45508400-45510200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr18:45508400-45510200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr18:45509200-45510400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr18:45509200-45513000	Weak transcription	HSMM	muscle
11	chr18:45509200-45514800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr18:45509400-45510600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:45509400-45511000	Enhancers	Fetal Brain Male	brain
14	chr18:45509600-45510400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr18:45509600-45511000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:45509800-45510000	Enhancers	Primary B cells from cord blood	blood
17	chr18:45509800-45511000	Enhancers	Fetal Brain Female	brain
18	chr18:45509800-45511200	Enhancers	HUES6 Cell Line	embryonic stem cell

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